Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49061695A>C | CA406806581 | NTF4 | c.303T>G (p.Ser101Arg) c.243+60T>G (n.243+60T>G) c.333T>G (p.Ser111Arg) n.348T>G | |
19 | g.49061695A>G | CA508279050 | NTF4 | c.303T>C (p.Ser101=) c.243+60T>C (n.243+60T>C) c.333T>C (p.Ser111=) n.348T>C | |
19 | g.49061695A>T | CA406806582 | NTF4 | c.303T>A (p.Ser101Arg) c.243+60T>A (n.243+60T>A) c.333T>A (p.Ser111Arg) n.348T>A | |
19 | g.49061696C>A | CA406806583 | NTF4 | c.302G>T (p.Ser101Ile) c.243+59G>T (n.243+59G>T) c.332G>T (p.Ser111Ile) n.347G>T | |
19 | g.49061696C>G | CA406806584 | NTF4 | c.302G>C (p.Ser101Thr) c.243+59G>C (n.243+59G>C) c.332G>C (p.Ser111Thr) n.347G>C | |
19 | g.49061696C>T | CA406806585 | NTF4 | c.302G>A (p.Ser101Asn) c.243+59G>A (n.243+59G>A) c.332G>A (p.Ser111Asn) n.347G>A | |
19 | g.49061697T>A | CA406806588 | NTF4 | c.301A>T (p.Ser101Cys) c.243+58A>T (n.243+58A>T) c.331A>T (p.Ser111Cys) n.346A>T | |
19 | g.49061697T>C | CA406806586 | NTF4 | c.301A>G (p.Ser101Gly) c.243+58A>G (n.243+58A>G) c.331A>G (p.Ser111Gly) n.346A>G | |
19 | g.49061697T>G | CA406806587 | NTF4 | c.301A>C (p.Ser101Arg) c.243+58A>C (n.243+58A>C) c.331A>C (p.Ser111Arg) n.346A>C | |
19 | g.49061698G>A | CA508279052 | NTF4 | c.300C>T (p.Val100=) c.243+57C>T (n.243+57C>T) c.330C>T (p.Val110=) n.345C>T | dbSNP |
19 | g.49061698G>C | CA508279053 | NTF4 | c.300C>G (p.Val100=) c.243+57C>G (n.243+57C>G) c.330C>G (p.Val110=) n.345C>G | |
19 | g.49061698G>T | CA508279055 | NTF4 | c.300C>A (p.Val100=) c.243+57C>A (n.243+57C>A) c.330C>A (p.Val110=) n.345C>A | |
19 | g.49061699A>C | CA406806589 | NTF4 | c.299T>G (p.Val100Gly) c.243+56T>G (n.243+56T>G) c.329T>G (p.Val110Gly) n.344T>G | |
19 | g.49061699A>G | CA406806590 | NTF4 | c.299T>C (p.Val100Ala) c.243+56T>C (n.243+56T>C) c.329T>C (p.Val110Ala) n.344T>C | |
19 | g.49061699A>T | CA406806591 | NTF4 | c.299T>A (p.Val100Asp) c.243+56T>A (n.243+56T>A) c.329T>A (p.Val110Asp) n.344T>A | |
19 | g.49061700C>A | CA406806592 | NTF4 | c.298G>T (p.Val100Phe) c.243+55G>T (n.243+55G>T) c.328G>T (p.Val110Phe) n.343G>T | |
19 | g.49061700C>G | CA406806593 | NTF4 | c.298G>C (p.Val100Leu) c.243+55G>C (n.243+55G>C) c.328G>C (p.Val110Leu) n.343G>C | |
19 | g.49061700C>T | CA406806594 | NTF4 | c.298G>A (p.Val100Ile) c.243+55G>A (n.243+55G>A) c.328G>A (p.Val110Ile) n.343G>A | |
19 | g.49061701T>A | CA508279059 | NTF4 | c.297A>T (p.Ala99=) c.243+54A>T (n.243+54A>T) c.327A>T (p.Ala109=) n.342A>T | |
19 | g.49061701T>C | CA508279060 | NTF4 | c.297A>G (p.Ala99=) c.243+54A>G (n.243+54A>G) c.327A>G (p.Ala109=) n.342A>G | |
19 | g.49061701T>G | CA309446826 | NTF4 | c.297A>C (p.Ala99=) c.243+54A>C (n.243+54A>C) c.327A>C (p.Ala109=) n.342A>C | dbSNP gnomAD v4 |
19 | g.49061701T= | CA2340217393 | NTF4 | c.297A= (p.Ala99=) c.243+54A= (n.243+54A=) c.327A= (p.Ala109=) n.342A= | |
19 | g.49061702G>A | CA406806596 | NTF4 | c.296C>T (p.Ala99Val) c.243+53C>T (n.243+53C>T) c.326C>T (p.Ala109Val) n.341C>T | dbSNP gnomAD v4 |
19 | g.49061702G>C | CA406806597 | NTF4 | c.296C>G (p.Ala99Gly) c.243+53C>G (n.243+53C>G) c.326C>G (p.Ala109Gly) n.341C>G | |
19 | g.49061702G= | CA2340217394 | NTF4 | c.296C= (p.Ala99=) c.243+53C= (n.243+53C=) c.326C= (p.Ala109=) n.341C= | |
19 | g.49061702G>T | CA406806595 | NTF4 | c.296C>A (p.Ala99Glu) c.243+53C>A (n.243+53C>A) c.326C>A (p.Ala109Glu) n.341C>A | |
19 | g.49061703C>A | CA406806598 | NTF4 | c.295G>T (p.Ala99Ser) c.243+52G>T (n.243+52G>T) c.325G>T (p.Ala109Ser) n.340G>T | |
19 | g.49061703C>G | CA406806599 | NTF4 | c.295G>C (p.Ala99Pro) c.243+52G>C (n.243+52G>C) c.325G>C (p.Ala109Pro) n.340G>C | |
19 | g.49061703C>T | CA406806600 | NTF4 | c.295G>A (p.Ala99Thr) c.243+52G>A (n.243+52G>A) c.325G>A (p.Ala109Thr) n.340G>A | COSMIC |
19 | g.49061704A= | CA2340217395 | NTF4 | c.294T= (p.Asp98=) c.243+51T= (n.243+51T=) c.324T= (p.Asp108=) n.339T= | |
19 | g.49061704A>C | CA406806601 | NTF4 | c.294T>G (p.Asp98Glu) c.243+51T>G (n.243+51T>G) c.324T>G (p.Asp108Glu) n.339T>G | |
19 | g.49061704A>G | CA9565677 | NTF4 | c.294T>C (p.Asp98=) c.243+51T>C (n.243+51T>C) c.324T>C (p.Asp108=) n.339T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061704A>T | CA406806602 | NTF4 | c.294T>A (p.Asp98Glu) c.243+51T>A (n.243+51T>A) c.324T>A (p.Asp108Glu) n.339T>A | |
19 | g.49061705T>A | CA406806605 | NTF4 | c.293A>T (p.Asp98Val) c.243+50A>T (n.243+50A>T) c.323A>T (p.Asp108Val) n.338A>T | |
19 | g.49061705T>C | CA406806603 | NTF4 | c.293A>G (p.Asp98Gly) c.243+50A>G (n.243+50A>G) c.323A>G (p.Asp108Gly) n.338A>G | gnomAD v4 |
19 | g.49061705T>G | CA406806604 | NTF4 | c.293A>C (p.Asp98Ala) c.243+50A>C (n.243+50A>C) c.323A>C (p.Asp108Ala) n.338A>C | |
19 | g.49061706C>A | CA406806606 | NTF4 | c.292G>T (p.Asp98Tyr) c.243+49G>T (n.243+49G>T) c.322G>T (p.Asp108Tyr) n.337G>T | gnomAD v4 |
19 | g.49061706C= | CA2340217396 | NTF4 | c.292G= (p.Asp98=) c.243+49G= (n.243+49G=) c.322G= (p.Asp108=) n.337G= | |
19 | g.49061706C>G | CA406806607 | NTF4 | c.292G>C (p.Asp98His) c.243+49G>C (n.243+49G>C) c.322G>C (p.Asp108His) n.337G>C | |
19 | g.49061706C>T | CA406806608 | NTF4 | c.292G>A (p.Asp98Asn) c.243+49G>A (n.243+49G>A) c.322G>A (p.Asp108Asn) n.337G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061707G>A | CA9565678 | NTF4 | c.291C>T (p.Cys97=) c.243+48C>T (n.243+48C>T) c.321C>T (p.Cys107=) n.336C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061707G>C | CA406806611 | NTF4 | c.291C>G (p.Cys97Trp) c.243+48C>G (n.243+48C>G) c.321C>G (p.Cys107Trp) n.336C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061707G= | CA2340217397 | NTF4 | c.291C= (p.Cys97=) c.243+48C= (n.243+48C=) c.321C= (p.Cys107=) n.336C= | |
19 | g.49061707G>T | CA406806613 | NTF4 | c.291C>A (p.Cys97Ter) c.243+48C>A (n.243+48C>A) c.321C>A (p.Cys107Ter) n.336C>A | |
19 | g.49061708C>A | CA406806614 | NTF4 | c.290G>T (p.Cys97Phe) c.243+47G>T (n.243+47G>T) c.320G>T (p.Cys107Phe) n.335G>T | |
19 | g.49061708C>G | CA406806618 | NTF4 | c.290G>C (p.Cys97Ser) c.243+47G>C (n.243+47G>C) c.320G>C (p.Cys107Ser) n.335G>C | |
19 | g.49061708C>T | CA406806616 | NTF4 | c.290G>A (p.Cys97Tyr) c.243+47G>A (n.243+47G>A) c.320G>A (p.Cys107Tyr) n.335G>A | |
19 | g.49061709A>C | CA406806621 | NTF4 | c.289T>G (p.Cys97Gly) c.243+46T>G (n.243+46T>G) c.319T>G (p.Cys107Gly) n.334T>G | |
19 | g.49061709A>G | CA406806622 | NTF4 | c.289T>C (p.Cys97Arg) c.243+46T>C (n.243+46T>C) c.319T>C (p.Cys107Arg) n.334T>C | |
19 | g.49061709A>T | CA406806624 | NTF4 | c.289T>A (p.Cys97Ser) c.243+46T>A (n.243+46T>A) c.319T>A (p.Cys107Ser) n.334T>A | |
19 | g.49061710C>A | CA508279070 | NTF4 | c.288G>T (p.Val96=) c.243+45G>T (n.243+45G>T) c.318G>T (p.Val106=) n.333G>T | |
19 | g.49061710C>G | CA508279071 | NTF4 | c.288G>C (p.Val96=) c.243+45G>C (n.243+45G>C) c.318G>C (p.Val106=) n.333G>C | |
19 | g.49061710C>T | CA508279069 | NTF4 | c.288G>A (p.Val96=) c.243+45G>A (n.243+45G>A) c.318G>A (p.Val106=) n.333G>A | |
19 | g.49061711A>C | CA406806626 | NTF4 | c.287T>G (p.Val96Gly) c.243+44T>G (n.243+44T>G) c.317T>G (p.Val106Gly) n.332T>G | |
19 | g.49061711A>G | CA406806627 | NTF4 | c.287T>C (p.Val96Ala) c.243+44T>C (n.243+44T>C) c.317T>C (p.Val106Ala) n.332T>C | |
19 | g.49061711A>T | CA406806630 | NTF4 | c.287T>A (p.Val96Glu) c.243+44T>A (n.243+44T>A) c.317T>A (p.Val106Glu) n.332T>A | |
19 | g.49061712C>A | CA406806633 | NTF4 | c.286G>T (p.Val96Leu) c.243+43G>T (n.243+43G>T) c.316G>T (p.Val106Leu) n.331G>T | |
19 | g.49061712C= | CA2340217398 | NTF4 | c.286G= (p.Val96=) c.243+43G= (n.243+43G=) c.316G= (p.Val106=) n.331G= | |
19 | g.49061712C>G | CA406806634 | NTF4 | c.286G>C (p.Val96Leu) c.243+43G>C (n.243+43G>C) c.316G>C (p.Val106Leu) n.331G>C | gnomAD v4 |
19 | g.49061712C>T | CA9565679 | NTF4 | c.286G>A (p.Val96Met) c.243+43G>A (n.243+43G>A) c.316G>A (p.Val106Met) n.331G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49061713A>C | CA508279075 | NTF4 | c.285T>G (p.Ala95=) c.243+42T>G (n.243+42T>G) c.315T>G (p.Ala105=) n.330T>G | |
19 | g.49061713A>G | CA508279073 | NTF4 | c.285T>C (p.Ala95=) c.243+42T>C (n.243+42T>C) c.315T>C (p.Ala105=) n.330T>C | gnomAD v4 |
19 | g.49061713A>T | CA508279074 | NTF4 | c.285T>A (p.Ala95=) c.243+42T>A (n.243+42T>A) c.315T>A (p.Ala105=) n.330T>A | |
19 | g.49061714G>A | CA406806637 | NTF4 | c.284C>T (p.Ala95Val) c.243+41C>T (n.243+41C>T) c.314C>T (p.Ala105Val) n.329C>T | |
19 | g.49061714G>C | CA406806639 | NTF4 | c.284C>G (p.Ala95Gly) c.243+41C>G (n.243+41C>G) c.314C>G (p.Ala105Gly) n.329C>G | |
19 | g.49061714G>T | CA406806641 | NTF4 | c.284C>A (p.Ala95Asp) c.243+41C>A (n.243+41C>A) c.314C>A (p.Ala105Asp) n.329C>A | |
19 | g.49061715C>A | CA406806644 | NTF4 | c.283G>T (p.Ala95Ser) c.243+40G>T (n.243+40G>T) c.313G>T (p.Ala105Ser) n.328G>T | |
19 | g.49061715C= | CA2340217399 | NTF4 | c.283G= (p.Ala95=) c.243+40G= (n.243+40G=) c.313G= (p.Ala105=) n.328G= | |
19 | g.49061715C>G | CA406806646 | NTF4 | c.283G>C (p.Ala95Pro) c.243+40G>C (n.243+40G>C) c.313G>C (p.Ala105Pro) n.328G>C | |
19 | g.49061715C>T | CA309446835 | NTF4 | c.283G>A (p.Ala95Thr) c.243+40G>A (n.243+40G>A) c.313G>A (p.Ala105Thr) n.328G>A | dbSNP |
19 | g.49061716C>A | CA508279076 | NTF4 | c.282G>T (p.Leu94=) c.243+39G>T (n.243+39G>T) c.312G>T (p.Leu104=) n.327G>T | |
19 | g.49061716C= | CA2340217400 | NTF4 | c.282G= (p.Leu94=) c.243+39G= (n.243+39G=) c.312G= (p.Leu104=) n.327G= | |
19 | g.49061716C>G | CA508279078 | NTF4 | c.282G>C (p.Leu94=) c.243+39G>C (n.243+39G>C) c.312G>C (p.Leu104=) n.327G>C | |
19 | g.49061716C>T | CA508279077 | NTF4 | c.282G>A (p.Leu94=) c.243+39G>A (n.243+39G>A) c.312G>A (p.Leu104=) n.327G>A | dbSNP |
19 | g.49061717A>C | CA406806648 | NTF4 | c.281T>G (p.Leu94Arg) c.243+38T>G (n.243+38T>G) c.311T>G (p.Leu104Arg) n.326T>G | COSMIC |
19 | g.49061717A>G | CA406806650 | NTF4 | c.281T>C (p.Leu94Pro) c.243+38T>C (n.243+38T>C) c.311T>C (p.Leu104Pro) n.326T>C | |
19 | g.49061717A>T | CA406806651 | NTF4 | c.281T>A (p.Leu94Gln) c.243+38T>A (n.243+38T>A) c.311T>A (p.Leu104Gln) n.326T>A | |
19 | g.49061718G>A | CA508279079 | NTF4 | c.280C>T (p.Leu94=) c.243+37C>T (n.243+37C>T) c.310C>T (p.Leu104=) n.325C>T | |
19 | g.49061718G>C | CA406806653 | NTF4 | c.280C>G (p.Leu94Val) c.243+37C>G (n.243+37C>G) c.310C>G (p.Leu104Val) n.325C>G | |
19 | g.49061718G>T | CA406806655 | NTF4 | c.280C>A (p.Leu94Met) c.243+37C>A (n.243+37C>A) c.310C>A (p.Leu104Met) n.325C>A | |
19 | g.49061719C>A | CA406806657 | NTF4 | c.279G>T (p.Glu93Asp) c.243+36G>T (n.243+36G>T) c.309G>T (p.Glu103Asp) n.324G>T | gnomAD v4 |
19 | g.49061719C= | CA2340217401 | NTF4 | c.279G= (p.Glu93=) c.243+36G= (n.243+36G=) c.309G= (p.Glu103=) n.324G= | |
19 | g.49061719C>G | CA406806659 | NTF4 | c.279G>C (p.Glu93Asp) c.243+36G>C (n.243+36G>C) c.309G>C (p.Glu103Asp) n.324G>C | |
19 | g.49061719C>T | CA508279080 | NTF4 | c.279G>A (p.Glu93=) c.243+36G>A (n.243+36G>A) c.309G>A (p.Glu103=) n.324G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061720T>A | CA406806662 | NTF4 | c.278A>T (p.Glu93Val) c.243+35A>T (n.243+35A>T) c.308A>T (p.Glu103Val) n.323A>T | |
19 | g.49061720T>C | CA406806663 | NTF4 | c.278A>G (p.Glu93Gly) c.243+35A>G (n.243+35A>G) c.308A>G (p.Glu103Gly) n.323A>G | |
19 | g.49061720T>G | CA406806664 | NTF4 | c.278A>C (p.Glu93Ala) c.243+35A>C (n.243+35A>C) c.308A>C (p.Glu103Ala) n.323A>C | |
19 | g.49061721C>A | CA406806667 | NTF4 | c.277G>T (p.Glu93Ter) c.243+34G>T (n.243+34G>T) c.307G>T (p.Glu103Ter) n.322G>T | |
19 | g.49061721C= | CA2340217402 | NTF4 | c.277G= (p.Glu93=) c.243+34G= (n.243+34G=) c.307G= (p.Glu103=) n.322G= | |
19 | g.49061721C>G | CA406806669 | NTF4 | c.277G>C (p.Glu93Gln) c.243+34G>C (n.243+34G>C) c.307G>C (p.Glu103Gln) n.322G>C | |
19 | g.49061721C>T | CA9565680 | NTF4 | c.277G>A (p.Glu93Lys) c.243+34G>A (n.243+34G>A) c.307G>A (p.Glu103Lys) n.322G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061722A= | CA2340217403 | NTF4 | c.276T= (p.Gly92=) c.243+33T= (n.243+33T=) c.306T= (p.Gly102=) n.321T= | |
19 | g.49061722A>C | CA508279082 | NTF4 | c.276T>G (p.Gly92=) c.243+33T>G (n.243+33T>G) c.306T>G (p.Gly102=) n.321T>G | |
19 | g.49061722A>G | CA508279083 | NTF4 | c.276T>C (p.Gly92=) c.243+33T>C (n.243+33T>C) c.306T>C (p.Gly102=) n.321T>C | |
19 | g.49061722A>T | CA508279084 | NTF4 | c.276T>A (p.Gly92=) c.243+33T>A (n.243+33T>A) c.306T>A (p.Gly102=) n.321T>A | |
19 | g.49061723C>A | CA406806674 | NTF4 | c.275G>T (p.Gly92Val) c.243+32G>T (n.243+32G>T) c.305G>T (p.Gly102Val) n.320G>T | |
19 | g.49061723C>G | CA406806671 | NTF4 | c.275G>C (p.Gly92Ala) c.243+32G>C (n.243+32G>C) c.305G>C (p.Gly102Ala) n.320G>C | |
19 | g.49061723C>T | CA406806672 | NTF4 | c.275G>A (p.Gly92Asp) c.243+32G>A (n.243+32G>A) c.305G>A (p.Gly102Asp) n.320G>A | |
19 | g.49061726dup | CA883075356 | NTF4 | c.275dup (p.Glu93Ter) c.243+32dup (n.243+32dup) c.305dup (p.Glu103Ter) n.320dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061724C>A | CA406806676 | NTF4 | c.274G>T (p.Gly92Cys) c.243+31G>T (n.243+31G>T) c.304G>T (p.Gly102Cys) n.319G>T | |
19 | g.49061724C>G | CA406806678 | NTF4 | c.274G>C (p.Gly92Arg) c.243+31G>C (n.243+31G>C) c.304G>C (p.Gly102Arg) n.319G>C | |
19 | g.49061724C>T | CA406806680 | NTF4 | c.274G>A (p.Gly92Ser) c.243+31G>A (n.243+31G>A) c.304G>A (p.Gly102Ser) n.319G>A | |
19 | g.49061725C>A | CA508279086 | NTF4 | c.273G>T (p.Arg91=) c.243+30G>T (n.243+30G>T) c.303G>T (p.Arg101=) n.318G>T | |
19 | g.49061725C>G | CA508279087 | NTF4 | c.273G>C (p.Arg91=) c.243+30G>C (n.243+30G>C) c.303G>C (p.Arg101=) n.318G>C | |
19 | g.49061725C>T | CA508279088 | NTF4 | c.273G>A (p.Arg91=) c.243+30G>A (n.243+30G>A) c.303G>A (p.Arg101=) n.318G>A | gnomAD v4 |
19 | g.49061726C>A | CA406806683 | NTF4 | c.272G>T (p.Arg91Leu) c.243+29G>T (n.243+29G>T) c.302G>T (p.Arg101Leu) n.317G>T | gnomAD v4 |
19 | g.49061726C= | CA2340217404 | NTF4 | c.272G= (p.Arg91=) c.243+29G= (n.243+29G=) c.302G= (p.Arg101=) n.317G= | |
19 | g.49061726C>G | CA406806685 | NTF4 | c.272G>C (p.Arg91Pro) c.243+29G>C (n.243+29G>C) c.302G>C (p.Arg101Pro) n.317G>C | |
19 | g.49061726C>T | CA309446836 | NTF4 | c.272G>A (p.Arg91Gln) c.243+29G>A (n.243+29G>A) c.302G>A (p.Arg101Gln) n.317G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061726_49061727insACTGGT | CA9565681 | NTF4 | c.271_272insACCAGT (p.Arg91delinsHisGlnTrp) c.243+28_243+29insACCAGT (n.243+28_243+29insACCAGT) c.301_302insACCAGT (p.Arg101delinsHisGlnTrp) n.316_317insACCAGT | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061727G>A | CA406806689 | NTF4 | c.271C>T (p.Arg91Trp) c.243+28C>T (n.243+28C>T) c.301C>T (p.Arg101Trp) n.316C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061727G>C | CA309446848 | NTF4 | c.271C>G (p.Arg91Gly) c.243+28C>G (n.243+28C>G) c.301C>G (p.Arg101Gly) n.316C>G | dbSNP |
19 | g.49061727G= | CA2340217405 | NTF4 | c.271C= (p.Arg91=) c.243+28C= (n.243+28C=) c.301C= (p.Arg101=) n.316C= | |
19 | g.49061727G>T | CA508279089 | NTF4 | c.271C>A (p.Arg91=) c.243+28C>A (n.243+28C>A) c.301C>A (p.Arg101=) n.316C>A | |
19 | g.49061728A>C | CA508279092 | NTF4 | c.270T>G (p.Arg90=) c.243+27T>G (n.243+27T>G) c.300T>G (p.Arg100=) n.315T>G | |
19 | g.49061728A>G | CA508279091 | NTF4 | c.270T>C (p.Arg90=) c.243+27T>C (n.243+27T>C) c.300T>C (p.Arg100=) n.315T>C | gnomAD v4 |
19 | g.49061728A>T | CA508279090 | NTF4 | c.270T>A (p.Arg90=) c.243+27T>A (n.243+27T>A) c.300T>A (p.Arg100=) n.315T>A | |
19 | g.49061729C>A | CA406806692 | NTF4 | c.269G>T (p.Arg90Leu) c.243+26G>T (n.243+26G>T) c.299G>T (p.Arg100Leu) n.314G>T | gnomAD v4 |
19 | g.49061729C= | CA2340217406 | NTF4 | c.269G= (p.Arg90=) c.243+26G= (n.243+26G=) c.299G= (p.Arg100=) n.314G= | |
19 | g.49061729C>G | CA406806694 | NTF4 | c.269G>C (p.Arg90Pro) c.243+26G>C (n.243+26G>C) c.299G>C (p.Arg100Pro) n.314G>C | |
19 | g.49061729C>T | CA9565682 | NTF4 | c.269G>A (p.Arg90His) c.243+26G>A (n.243+26G>A) c.299G>A (p.Arg100His) n.314G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49061730G>A | CA9565683 | NTF4 | c.268C>T (p.Arg90Cys) c.243+25C>T (n.243+25C>T) c.298C>T (p.Arg100Cys) n.313C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061730G>C | CA406806697 | NTF4 | c.268C>G (p.Arg90Gly) c.243+25C>G (n.243+25C>G) c.298C>G (p.Arg100Gly) n.313C>G | |
19 | g.49061730G= | CA2340217407 | NTF4 | c.268C= (p.Arg90=) c.243+25C= (n.243+25C=) c.298C= (p.Arg100=) n.313C= | |
19 | g.49061730G>T | CA406806696 | NTF4 | c.268C>A (p.Arg90Ser) c.243+25C>A (n.243+25C>A) c.298C>A (p.Arg100Ser) n.313C>A | |
19 | g.49061731A= | CA2340217408 | NTF4 | c.267T= (p.Ser89=) c.243+24T= (n.243+24T=) c.297T= (p.Ser99=) n.312T= | |
19 | g.49061731A>C | CA406806699 | NTF4 | c.267T>G (p.Ser89Arg) c.243+24T>G (n.243+24T>G) c.297T>G (p.Ser99Arg) n.312T>G | |
19 | g.49061731A>G | CA508279094 | NTF4 | c.267T>C (p.Ser89=) c.243+24T>C (n.243+24T>C) c.297T>C (p.Ser99=) n.312T>C | |
19 | g.49061731A>T | CA406806701 | NTF4 | c.267T>A (p.Ser89Arg) c.243+24T>A (n.243+24T>A) c.297T>A (p.Ser99Arg) n.312T>A | |
19 | g.49061732C>A | CA406806703 | NTF4 | c.266G>T (p.Ser89Ile) c.243+23G>T (n.243+23G>T) c.296G>T (p.Ser99Ile) n.311G>T | |
19 | g.49061732C= | CA2340217409 | NTF4 | c.266G= (p.Ser89=) c.243+23G= (n.243+23G=) c.296G= (p.Ser99=) n.311G= | |
19 | g.49061732C>G | CA406806706 | NTF4 | c.266G>C (p.Ser89Thr) c.243+23G>C (n.243+23G>C) c.296G>C (p.Ser99Thr) n.311G>C | |
19 | g.49061732C>T | CA9565684 | NTF4 | c.266G>A (p.Ser89Asn) c.243+23G>A (n.243+23G>A) c.296G>A (p.Ser99Asn) n.311G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061734_49061737dup | CA633890021 | NTF4 | c.263_266dup (p.Arg90GlufsTer5) c.243+20_243+23dup (n.243+20_243+23dup) c.293_296dup (p.Arg100GlufsTer5) n.308_311dup | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061733T>A | CA406806708 | NTF4 | c.265A>T (p.Ser89Cys) c.243+22A>T (n.243+22A>T) c.295A>T (p.Ser99Cys) n.310A>T | |
19 | g.49061733T>C | CA406806711 | NTF4 | c.265A>G (p.Ser89Gly) c.243+22A>G (n.243+22A>G) c.295A>G (p.Ser99Gly) n.310A>G | |
19 | g.49061733T>G | CA406806709 | NTF4 | c.265A>C (p.Ser89Arg) c.243+22A>C (n.243+22A>C) c.295A>C (p.Ser99Arg) n.310A>C | |
19 | g.49061734C>A | CA508279095 | NTF4 | c.264G>T (p.Ala88=) c.243+21G>T (n.243+21G>T) c.294G>T (p.Ala98=) n.309G>T | |
19 | g.49061734C= | CA2340217410 | NTF4 | c.264G= (p.Ala88=) c.243+21G= (n.243+21G=) c.294G= (p.Ala98=) n.309G= | |
19 | g.49061734C>G | CA508279096 | NTF4 | c.264G>C (p.Ala88=) c.243+21G>C (n.243+21G>C) c.294G>C (p.Ala98=) n.309G>C | COSMIC |
19 | g.49061734C>T | CA9565685 | NTF4 | c.264G>A (p.Ala88=) c.243+21G>A (n.243+21G>A) c.294G>A (p.Ala98=) n.309G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061735G>A | CA123705 | NTF4 | c.263C>T (p.Ala88Val) c.243+20C>T (n.243+20C>T) c.293C>T (p.Ala98Val) n.308C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061735G>C | CA406806713 | NTF4 | c.263C>G (p.Ala88Gly) c.243+20C>G (n.243+20C>G) c.293C>G (p.Ala98Gly) n.308C>G | |
19 | g.49061735G= | CA2340217411 | NTF4 | c.263C= (p.Ala88=) c.243+20C= (n.243+20C=) c.293C= (p.Ala98=) n.308C= | |
19 | g.49061735G>T | CA406806715 | NTF4 | c.263C>A (p.Ala88Glu) c.243+20C>A (n.243+20C>A) c.293C>A (p.Ala98Glu) n.308C>A | |
19 | g.49061736C>A | CA406806718 | NTF4 | c.262G>T (p.Ala88Ser) c.243+19G>T (n.243+19G>T) c.292G>T (p.Ala98Ser) n.307G>T | |
19 | g.49061736C>G | CA406806721 | NTF4 | c.262G>C (p.Ala88Pro) c.243+19G>C (n.243+19G>C) c.292G>C (p.Ala98Pro) n.307G>C | |
19 | g.49061736C>T | CA406806719 | NTF4 | c.262G>A (p.Ala88Thr) c.243+19G>A (n.243+19G>A) c.292G>A (p.Ala98Thr) n.307G>A | |
19 | g.49061737T>A | CA508279102 | NTF4 | c.261A>T (p.Pro87=) c.243+18A>T (n.243+18A>T) c.291A>T (p.Pro97=) n.306A>T | |
19 | g.49061737T>C | CA508279100 | NTF4 | c.261A>G (p.Pro87=) c.243+18A>G (n.243+18A>G) c.291A>G (p.Pro97=) n.306A>G | gnomAD v4 |
19 | g.49061737T>G | CA508279101 | NTF4 | c.261A>C (p.Pro87=) c.243+18A>C (n.243+18A>C) c.291A>C (p.Pro97=) n.306A>C | |
19 | g.49061738G>A | CA406806724 | NTF4 | c.260C>T (p.Pro87Leu) c.243+17C>T (n.243+17C>T) c.290C>T (p.Pro97Leu) n.305C>T | |
19 | g.49061738G>C | CA406806725 | NTF4 | c.260C>G (p.Pro87Arg) c.243+17C>G (n.243+17C>G) c.290C>G (p.Pro97Arg) n.305C>G | |
19 | g.49061738G= | CA2340217412 | NTF4 | c.260C= (p.Pro87=) c.243+17C= (n.243+17C=) c.290C= (p.Pro97=) n.305C= | |
19 | g.49061738G>T | CA9565686 | NTF4 | c.260C>A (p.Pro87Gln) c.243+17C>A (n.243+17C>A) c.290C>A (p.Pro97Gln) n.305C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061739G>A | CA406806728 | NTF4 | c.259C>T (p.Pro87Ser) c.243+16C>T (n.243+16C>T) c.289C>T (p.Pro97Ser) n.304C>T | |
19 | g.49061739G>C | CA406806730 | NTF4 | c.259C>G (p.Pro87Ala) c.243+16C>G (n.243+16C>G) c.289C>G (p.Pro97Ala) n.304C>G | |
19 | g.49061739G>T | CA406806732 | NTF4 | c.259C>A (p.Pro87Thr) c.243+16C>A (n.243+16C>A) c.289C>A (p.Pro97Thr) n.304C>A | |
19 | g.49061740T>A | CA508279104 | NTF4 | c.258A>T (p.Ala86=) c.243+15A>T (n.243+15A>T) c.288A>T (p.Ala96=) n.303A>T | |
19 | g.49061740T>C | CA9565687 | NTF4 | c.258A>G (p.Ala86=) c.243+15A>G (n.243+15A>G) c.288A>G (p.Ala96=) n.303A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061740T>G | CA508279105 | NTF4 | c.258A>C (p.Ala86=) c.243+15A>C (n.243+15A>C) c.288A>C (p.Ala96=) n.303A>C | |
19 | g.49061740T= | CA2340217413 | NTF4 | c.258A= (p.Ala86=) c.243+15A= (n.243+15A=) c.288A= (p.Ala96=) n.303A= | |
19 | g.49061740dup | CA2839605977 | NTF4 | c.258dup (p.Pro87ThrfsTer7) c.243+15dup (n.243+15dup) c.288dup (p.Pro97ThrfsTer7) n.303dup | |
19 | g.49061741G>A | CA406806737 | NTF4 | c.257C>T (p.Ala86Val) c.243+14C>T (n.243+14C>T) c.287C>T (p.Ala96Val) n.302C>T | |
19 | g.49061741G>C | CA406806738 | NTF4 | c.257C>G (p.Ala86Gly) c.243+14C>G (n.243+14C>G) c.287C>G (p.Ala96Gly) n.302C>G | |
19 | g.49061741G>T | CA406806739 | NTF4 | c.257C>A (p.Ala86Glu) c.243+14C>A (n.243+14C>A) c.287C>A (p.Ala96Glu) n.302C>A | gnomAD v4 |
19 | g.49061742C>A | CA309446904 | NTF4 | c.256G>T (p.Ala86Ser) c.243+13G>T (n.243+13G>T) c.286G>T (p.Ala96Ser) n.301G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061742C= | CA2340217414 | NTF4 | c.256G= (p.Ala86=) c.243+13G= (n.243+13G=) c.286G= (p.Ala96=) n.301G= | |
19 | g.49061742C>G | CA406806744 | NTF4 | c.256G>C (p.Ala86Pro) c.243+13G>C (n.243+13G>C) c.286G>C (p.Ala96Pro) n.301G>C | |
19 | g.49061742C>T | CA406806742 | NTF4 | c.256G>A (p.Ala86Thr) c.243+13G>A (n.243+13G>A) c.286G>A (p.Ala96Thr) n.301G>A | |
19 | g.49061743A>C | CA508279110 | NTF4 | c.255T>G (p.Thr85=) c.243+12T>G (n.243+12T>G) c.285T>G (p.Thr95=) n.300T>G | |
19 | g.49061743A>G | CA508279108 | NTF4 | c.255T>C (p.Thr85=) c.243+12T>C (n.243+12T>C) c.285T>C (p.Thr95=) n.300T>C | |
19 | g.49061743A>T | CA508279109 | NTF4 | c.255T>A (p.Thr85=) c.243+12T>A (n.243+12T>A) c.285T>A (p.Thr95=) n.300T>A | |
19 | g.49061744G>A | CA406806746 | NTF4 | c.254C>T (p.Thr85Ile) c.243+11C>T (n.243+11C>T) c.284C>T (p.Thr95Ile) n.299C>T | |
19 | g.49061744G>C | CA406806747 | NTF4 | c.254C>G (p.Thr85Ser) c.243+11C>G (n.243+11C>G) c.284C>G (p.Thr95Ser) n.299C>G | gnomAD v4 |
19 | g.49061744G>T | CA406806748 | NTF4 | c.254C>A (p.Thr85Asn) c.243+11C>A (n.243+11C>A) c.284C>A (p.Thr95Asn) n.299C>A | |
19 | g.49061745T>A | CA406806750 | NTF4 | c.253A>T (p.Thr85Ser) c.243+10A>T (n.243+10A>T) c.283A>T (p.Thr95Ser) n.298A>T | |
19 | g.49061745T>C | CA9565688 | NTF4 | c.253A>G (p.Thr85Ala) c.243+10A>G (n.243+10A>G) c.283A>G (p.Thr95Ala) n.298A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061745T>G | CA406806751 | NTF4 | c.253A>C (p.Thr85Pro) c.243+10A>C (n.243+10A>C) c.283A>C (p.Thr95Pro) n.298A>C | |
19 | g.49061745T= | CA2340217415 | NTF4 | c.253A= (p.Thr85=) c.243+10A= (n.243+10A=) c.283A= (p.Thr95=) n.298A= | |
19 | g.49061746T>A | CA406806753 | NTF4 | c.252A>T (p.Glu84Asp) c.243+9A>T (n.243+9A>T) c.282A>T (p.Glu94Asp) n.297A>T | |
19 | g.49061746T>C | CA508279114 | NTF4 | c.252A>G (p.Glu84=) c.243+9A>G (n.243+9A>G) c.282A>G (p.Glu94=) n.297A>G | |
19 | g.49061746T>G | CA406806755 | NTF4 | c.252A>C (p.Glu84Asp) c.243+9A>C (n.243+9A>C) c.282A>C (p.Glu94Asp) n.297A>C | |
19 | g.49061747T>A | CA406806758 | NTF4 | c.251A>T (p.Glu84Val) c.243+8A>T (n.243+8A>T) c.281A>T (p.Glu94Val) n.296A>T | |
19 | g.49061747T>C | CA406806760 | NTF4 | c.251A>G (p.Glu84Gly) c.243+8A>G (n.243+8A>G) c.281A>G (p.Glu94Gly) n.296A>G | |
19 | g.49061747T>G | CA406806761 | NTF4 | c.251A>C (p.Glu84Ala) c.243+8A>C (n.243+8A>C) c.281A>C (p.Glu94Ala) n.296A>C | gnomAD v4 |
19 | g.49061748C>A | CA406806763 | NTF4 | c.250G>T (p.Glu84Ter) c.243+7G>T (n.243+7G>T) c.280G>T (p.Glu94Ter) n.295G>T | |
19 | g.49061748C= | CA2340217416 | NTF4 | c.250G= (p.Glu84=) c.243+7G= (n.243+7G=) c.280G= (p.Glu94=) n.295G= | |
19 | g.49061748C>G | CA406806764 | NTF4 | c.250G>C (p.Glu84Gln) c.243+7G>C (n.243+7G>C) c.280G>C (p.Glu94Gln) n.295G>C | |
19 | g.49061748C>T | CA9565689 | NTF4 | c.250G>A (p.Glu84Lys) c.243+7G>A (n.243+7G>A) c.280G>A (p.Glu94Lys) n.295G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49061749G>A | CA9565690 | NTF4 | c.249C>T (p.Ser83=) c.243+6C>T (n.243+6C>T) c.279C>T (p.Ser93=) n.294C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061749G>C | CA406806767 | NTF4 | c.249C>G (p.Ser83Arg) c.243+6C>G (n.243+6C>G) c.279C>G (p.Ser93Arg) n.294C>G | gnomAD v4 |
19 | g.49061749G= | CA2340217417 | NTF4 | c.249C= (p.Ser83=) c.243+6C= (n.243+6C=) c.279C= (p.Ser93=) n.294C= | |
19 | g.49061749G>T | CA406806768 | NTF4 | c.249C>A (p.Ser83Arg) c.243+6C>A (n.243+6C>A) c.279C>A (p.Ser93Arg) n.294C>A | |
19 | g.49061750C>A | CA406806770 | NTF4 | c.248G>T (p.Ser83Ile) c.243+5G>T (n.243+5G>T) c.278G>T (p.Ser93Ile) n.293G>T | |
19 | g.49061750C= | CA2340217418 | NTF4 | c.248G= (p.Ser83=) c.243+5G= (n.243+5G=) c.278G= (p.Ser93=) n.293G= | |
19 | g.49061750C>G | CA309446916 | NTF4 | c.248G>C (p.Ser83Thr) c.243+5G>C (n.243+5G>C) c.278G>C (p.Ser93Thr) n.293G>C | dbSNP gnomAD v4 |
19 | g.49061750C>T | CA406806772 | NTF4 | c.248G>A (p.Ser83Asn) c.243+5G>A (n.243+5G>A) c.278G>A (p.Ser93Asn) n.293G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061751T>A | CA406806774 | NTF4 | c.247A>T (p.Ser83Cys) c.243+4A>T (n.243+4A>T) c.277A>T (p.Ser93Cys) n.292A>T | |
19 | g.49061751T>C | CA406806776 | NTF4 | c.247A>G (p.Ser83Gly) c.243+4A>G (n.243+4A>G) c.277A>G (p.Ser93Gly) n.292A>G | |
19 | g.49061751T>G | CA406806778 | NTF4 | c.247A>C (p.Ser83Arg) c.243+4A>C (n.243+4A>C) c.277A>C (p.Ser93Arg) n.292A>C | |
19 | g.49061752C>A | CA508279115 | NTF4 | c.246G>T (p.Val82=) c.243+3G>T (n.243+3G>T) c.276G>T (p.Val92=) n.291G>T | dbSNP |
19 | g.49061752C= | CA2340217419 | NTF4 | c.246G= (p.Val82=) c.243+3G= (n.243+3G=) c.276G= (p.Val92=) n.291G= | |
19 | g.49061752C>G | CA508279116 | NTF4 | c.246G>C (p.Val82=) c.243+3G>C (n.243+3G>C) c.276G>C (p.Val92=) n.291G>C | |
19 | g.49061752C>T | CA508279117 | NTF4 | c.246G>A (p.Val82=) c.243+3G>A (n.243+3G>A) c.276G>A (p.Val92=) n.291G>A | dbSNP gnomAD v4 |
19 | g.49061753A>C | CA406806780 | NTF4 | c.245T>G (p.Val82Gly) c.243+2T>G (n.243+2T>G) c.275T>G (p.Val92Gly) n.290T>G | |
19 | g.49061753A>G | CA406806782 | NTF4 | c.245T>C (p.Val82Ala) c.243+2T>C (n.243+2T>C) c.275T>C (p.Val92Ala) n.290T>C | |
19 | g.49061753A>T | CA406806784 | NTF4 | c.245T>A (p.Val82Glu) c.243+2T>A (n.243+2T>A) c.275T>A (p.Val92Glu) n.290T>A | |
19 | g.49061754C>A | CA406806788 | NTF4 | c.244G>T (p.Val82Leu) c.243+1G>T (n.243+1G>T) c.274G>T (p.Val92Leu) n.289G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061754C= | CA2340217420 | NTF4 | c.244G= (p.Val82=) c.243+1G= (n.243+1G=) c.274G= (p.Val92=) n.289G= | |
19 | g.49061754C>G | CA406806790 | NTF4 | c.244G>C (p.Val82Leu) c.243+1G>C (n.243+1G>C) c.274G>C (p.Val92Leu) n.289G>C | |
19 | g.49061754C>T | CA406806787 | NTF4 | c.244G>A (p.Val82Met) c.243+1G>A (n.243+1G>A) c.274G>A (p.Val92Met) n.289G>A | dbSNP gnomAD v2 |
19 | g.49061755C>A | CA508279121 | NTF4 | c.243G>T (p.Gly81=) c.273G>T (p.Gly91=) n.288G>T | gnomAD v4 |
19 | g.49061755C= | CA2340217421 | NTF4 | c.243G= (p.Gly81=) c.273G= (p.Gly91=) n.288G= | |
19 | g.49061755C>G | CA508279122 | NTF4 | c.243G>C (p.Gly81=) c.273G>C (p.Gly91=) n.288G>C | |
19 | g.49061755C>T | CA9565691 | NTF4 | c.243G>A (p.Gly81=) c.273G>A (p.Gly91=) n.288G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061756C>A | CA9565693 | NTF4 | c.242G>T (p.Gly81Val) c.272G>T (p.Gly91Val) n.287G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061756C= | CA2340217422 | NTF4 | c.242G= (p.Gly81=) c.272G= (p.Gly91=) n.287G= | |
19 | g.49061756C>G | CA406806794 | NTF4 | c.242G>C (p.Gly81Ala) c.272G>C (p.Gly91Ala) n.287G>C | |
19 | g.49061756C>T | CA9565692 | NTF4 | c.242G>A (p.Gly81Glu) c.272G>A (p.Gly91Glu) n.287G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061757C>A | CA406806801 | NTF4 | c.241G>T (p.Gly81Trp) c.271G>T (p.Gly91Trp) n.286G>T | gnomAD v4 |
19 | g.49061757C= | CA2340217423 | NTF4 | c.241G= (p.Gly81=) c.271G= (p.Gly91=) n.286G= | |
19 | g.49061757C>G | CA406806800 | NTF4 | c.241G>C (p.Gly81Arg) c.271G>C (p.Gly91Arg) n.286G>C | dbSNP |
19 | g.49061757C>T | CA406806798 | NTF4 | c.241G>A (p.Gly81Arg) c.271G>A (p.Gly91Arg) n.286G>A | |
19 | g.49061758A>C | CA508279124 | NTF4 | c.240T>G (p.Arg80=) c.270T>G (p.Arg90=) n.285T>G | |
19 | g.49061758A>G | CA508279125 | NTF4 | c.240T>C (p.Arg80=) c.270T>C (p.Arg90=) n.285T>C | |
19 | g.49061758A>T | CA508279126 | NTF4 | c.240T>A (p.Arg80=) c.270T>A (p.Arg90=) n.285T>A | |
19 | g.49061759C>A | CA406806803 | NTF4 | c.239G>T (p.Arg80Leu) c.269G>T (p.Arg90Leu) n.284G>T | gnomAD v4 |
19 | g.49061759C= | CA2340217424 | NTF4 | c.239G= (p.Arg80=) c.269G= (p.Arg90=) n.284G= | |
19 | g.49061759C>G | CA406806805 | NTF4 | c.239G>C (p.Arg80Pro) c.269G>C (p.Arg90Pro) n.284G>C | |
19 | g.49061759C>T | CA406806807 | NTF4 | c.239G>A (p.Arg80His) c.269G>A (p.Arg90His) n.284G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061760G>A | CA9565694 | NTF4 | c.238C>T (p.Arg80Cys) c.268C>T (p.Arg90Cys) n.283C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061760G>C | CA406806810 | NTF4 | c.238C>G (p.Arg80Gly) c.268C>G (p.Arg90Gly) n.283C>G | |
19 | g.49061760G= | CA2340217425 | NTF4 | c.238C= (p.Arg80=) c.268C= (p.Arg90=) n.283C= | |
19 | g.49061760G>T | CA406806812 | NTF4 | c.238C>A (p.Arg80Ser) c.268C>A (p.Arg90Ser) n.283C>A | |
19 | g.49061761C>A | CA508279129 | NTF4 | c.237G>T (p.Arg79=) c.267G>T (p.Arg89=) n.282G>T | |
19 | g.49061761C>G | CA508279130 | NTF4 | c.237G>C (p.Arg79=) c.267G>C (p.Arg89=) n.282G>C | |
19 | g.49061761C>T | CA508279131 | NTF4 | c.237G>A (p.Arg79=) c.267G>A (p.Arg89=) n.282G>A | gnomAD v4 |
19 | g.49061763_49061784dup | CA2586311536 | NTF4 | c.216_237dup (p.Arg80CysfsTer21) c.216_237dup (p.Arg80CysfsTer?) c.246_267dup (p.Arg90CysfsTer21) n.261_282dup | gnomAD v4 |
19 | g.49061762C>A | CA406806817 | NTF4 | c.236G>T (p.Arg79Leu) c.266G>T (p.Arg89Leu) n.281G>T | |
19 | g.49061762C= | CA2340217426 | NTF4 | c.236G= (p.Arg79=) c.266G= (p.Arg89=) n.281G= | |
19 | g.49061762C>G | CA406806815 | NTF4 | c.236G>C (p.Arg79Pro) c.266G>C (p.Arg89Pro) n.281G>C | |
19 | g.49061762C>T | CA9565695 | NTF4 | c.236G>A (p.Arg79Gln) c.266G>A (p.Arg89Gln) n.281G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061763G>A | CA406806819 | NTF4 | c.235C>T (p.Arg79Trp) c.265C>T (p.Arg89Trp) n.280C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061763G>C | CA406806821 | NTF4 | c.235C>G (p.Arg79Gly) c.265C>G (p.Arg89Gly) n.280C>G | |
19 | g.49061763G= | CA2340217427 | NTF4 | c.235C= (p.Arg79=) c.265C= (p.Arg89=) n.280C= | |
19 | g.49061763G>T | CA508279133 | NTF4 | c.235C>A (p.Arg79=) c.265C>A (p.Arg89=) n.280C>A | gnomAD v4 |
19 | g.49061764G>A | CA508279135 | NTF4 | c.234C>T (p.Ser78=) c.264C>T (p.Ser88=) n.279C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061764G>C | CA406806823 | NTF4 | c.234C>G (p.Ser78Arg) c.264C>G (p.Ser88Arg) n.279C>G | |
19 | g.49061764G= | CA2340217428 | NTF4 | c.234C= (p.Ser78=) c.264C= (p.Ser88=) n.279C= | |
19 | g.49061764G>T | CA406806825 | NTF4 | c.234C>A (p.Ser78Arg) c.264C>A (p.Ser88Arg) n.279C>A | gnomAD v4 |
19 | g.49061764_49061765insT | CA2340217429 | NTF4 | c.233_234insA (p.Ser78ArgfsTer16) c.233_234insA (p.Ser78ArgfsTer?) c.263_264insA (p.Ser88ArgfsTer16) n.278_279insA | dbSNP |
19 | g.49061765C>A | CA406806827 | NTF4 | c.233G>T (p.Ser78Ile) c.263G>T (p.Ser88Ile) n.278G>T | |
19 | g.49061765C= | CA2340217430 | NTF4 | c.233G= (p.Ser78=) c.263G= (p.Ser88=) n.278G= | |
19 | g.49061765C>G | CA406806828 | NTF4 | c.233G>C (p.Ser78Thr) c.263G>C (p.Ser88Thr) n.278G>C | |
19 | g.49061765C>T | CA406806830 | NTF4 | c.233G>A (p.Ser78Asn) c.263G>A (p.Ser88Asn) n.278G>A | dbSNP gnomAD v2 |
19 | g.49061766T>A | CA406806832 | NTF4 | c.232A>T (p.Ser78Cys) c.262A>T (p.Ser88Cys) n.277A>T | |
19 | g.49061766T>C | CA406806834 | NTF4 | c.232A>G (p.Ser78Gly) c.262A>G (p.Ser88Gly) n.277A>G | |
19 | g.49061766T>G | CA406806836 | NTF4 | c.232A>C (p.Ser78Arg) c.262A>C (p.Ser88Arg) n.277A>C | |
19 | g.49061767G>A | CA508279137 | NTF4 | c.231C>T (p.Arg77=) c.261C>T (p.Arg87=) n.276C>T | gnomAD v4 |
19 | g.49061767G>C | CA508279139 | NTF4 | c.231C>G (p.Arg77=) c.261C>G (p.Arg87=) n.276C>G | |
19 | g.49061767G>T | CA508279141 | NTF4 | c.231C>A (p.Arg77=) c.261C>A (p.Arg87=) n.276C>A | gnomAD v4 |
19 | g.49061768C>A | CA406806838 | NTF4 | c.230G>T (p.Arg77Leu) c.260G>T (p.Arg87Leu) n.275G>T | gnomAD v4 |
19 | g.49061768C= | CA2340217431 | NTF4 | c.230G= (p.Arg77=) c.260G= (p.Arg87=) n.275G= | |
19 | g.49061768C>G | CA406806840 | NTF4 | c.230G>C (p.Arg77Pro) c.260G>C (p.Arg87Pro) n.275G>C | |
19 | g.49061768C>T | CA9565696 | NTF4 | c.230G>A (p.Arg77His) c.260G>A (p.Arg87His) n.275G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061769G>A | CA9565697 | NTF4 | c.229C>T (p.Arg77Cys) c.259C>T (p.Arg87Cys) n.274C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061769G>C | CA406806844 | NTF4 | c.229C>G (p.Arg77Gly) c.259C>G (p.Arg87Gly) n.274C>G | |
19 | g.49061769G= | CA2340217432 | NTF4 | c.229C= (p.Arg77=) c.259C= (p.Arg87=) n.274C= | |
19 | g.49061769G>T | CA406806846 | NTF4 | c.229C>A (p.Arg77Ser) c.259C>A (p.Arg87Ser) n.274C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061770G>A | CA508279144 | NTF4 | c.228C>T (p.Asn76=) c.258C>T (p.Asn86=) n.273C>T | |
19 | g.49061770G>C | CA406806848 | NTF4 | c.228C>G (p.Asn76Lys) c.258C>G (p.Asn86Lys) n.273C>G | |
19 | g.49061770G>T | CA406806850 | NTF4 | c.228C>A (p.Asn76Lys) c.258C>A (p.Asn86Lys) n.273C>A | gnomAD v4 COSMIC |
19 | g.49061771T>A | CA406806852 | NTF4 | c.227A>T (p.Asn76Ile) c.257A>T (p.Asn86Ile) n.272A>T | |
19 | g.49061771T>C | CA406806853 | NTF4 | c.227A>G (p.Asn76Ser) c.257A>G (p.Asn86Ser) n.272A>G | |
19 | g.49061771T>G | CA406806855 | NTF4 | c.227A>C (p.Asn76Thr) c.257A>C (p.Asn86Thr) n.272A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061771T= | CA2340217433 | NTF4 | c.227A= (p.Asn76=) c.257A= (p.Asn86=) n.272A= | |
19 | g.49061772T>A | CA406806857 | NTF4 | c.226A>T (p.Asn76Tyr) c.256A>T (p.Asn86Tyr) n.271A>T | |
19 | g.49061772T>C | CA406806859 | NTF4 | c.226A>G (p.Asn76Asp) c.256A>G (p.Asn86Asp) n.271A>G | |
19 | g.49061772T>G | CA9565698 | NTF4 | c.226A>C (p.Asn76His) c.256A>C (p.Asn86His) n.271A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061772T= | CA2340217434 | NTF4 | c.226A= (p.Asn76=) c.256A= (p.Asn86=) n.271A= | |
19 | g.49061773G>A | CA508279147 | NTF4 | c.225C>T (p.Ala75=) c.255C>T (p.Ala85=) n.270C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061773G>C | CA508279148 | NTF4 | c.225C>G (p.Ala75=) c.255C>G (p.Ala85=) n.270C>G | |
19 | g.49061773G= | CA2340217435 | NTF4 | c.225C= (p.Ala75=) c.255C= (p.Ala85=) n.270C= | |
19 | g.49061773G>T | CA508279149 | NTF4 | c.225C>A (p.Ala75=) c.255C>A (p.Ala85=) n.270C>A | |
19 | g.49061774G>A | CA9565700 | NTF4 | c.224C>T (p.Ala75Val) c.254C>T (p.Ala85Val) n.269C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061774G>C | CA406806862 | NTF4 | c.224C>G (p.Ala75Gly) c.254C>G (p.Ala85Gly) n.269C>G | |
19 | g.49061774G= | CA2340217436 | NTF4 | c.224C= (p.Ala75=) c.254C= (p.Ala85=) n.269C= | |
19 | g.49061774G>T | CA9565699 | NTF4 | c.224C>A (p.Ala75Asp) c.254C>A (p.Ala85Asp) n.269C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061775C>A | CA406806865 | NTF4 | c.223G>T (p.Ala75Ser) c.253G>T (p.Ala85Ser) n.268G>T | |
19 | g.49061775C= | CA2340217437 | NTF4 | c.223G= (p.Ala75=) c.253G= (p.Ala85=) n.268G= | |
19 | g.49061775C>G | CA406806867 | NTF4 | c.223G>C (p.Ala75Pro) c.253G>C (p.Ala85Pro) n.268G>C | |
19 | g.49061775C>T | CA309446946 | NTF4 | c.223G>A (p.Ala75Thr) c.253G>A (p.Ala85Thr) n.268G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061776del | CA2586311537 | NTF4 | c.223del (p.Ala75ProfsTer8) c.223del (p.Ala75ProfsTer?) c.253del (p.Ala85ProfsTer8) n.268del | gnomAD v4 |
19 | g.49061776C>A | CA508279152 | NTF4 | c.222G>T (p.Pro74=) c.252G>T (p.Pro84=) n.267G>T | gnomAD v4 |
19 | g.49061776C= | CA2340217438 | NTF4 | c.222G= (p.Pro74=) c.252G= (p.Pro84=) n.267G= | |
19 | g.49061776C>G | CA508279153 | NTF4 | c.222G>C (p.Pro74=) c.252G>C (p.Pro84=) n.267G>C | gnomAD v4 |
19 | g.49061776C>T | CA9565701 | NTF4 | c.222G>A (p.Pro74=) c.252G>A (p.Pro84=) n.267G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061776_49061777delinsCG | CA2340217439 | NTF4 | c.221_222delinsCG (p.Pro74=) c.251_252delinsCG (p.Pro84=) n.266_267delinsCG | |
19 | g.49061777G>A | CA309446965 | NTF4 | c.221C>T (p.Pro74Leu) c.251C>T (p.Pro84Leu) n.266C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061777G>C | CA406806871 | NTF4 | c.221C>G (p.Pro74Arg) c.251C>G (p.Pro84Arg) n.266C>G | |
19 | g.49061777G= | CA2340217441 | NTF4 | c.221C= (p.Pro74=) c.251C= (p.Pro84=) n.266C= | |
19 | g.49061777G>T | CA406806872 | NTF4 | c.221C>A (p.Pro74Gln) c.251C>A (p.Pro84Gln) n.266C>A | gnomAD v4 COSMIC |
19 | g.49061780del | CA2340217440 | NTF4 | c.221del (p.Pro74ArgfsTer9) c.221del (p.Pro74ArgfsTer?) c.251del (p.Pro84ArgfsTer9) n.266del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061778G>A | CA406806876 | NTF4 | c.220C>T (p.Pro74Ser) c.250C>T (p.Pro84Ser) n.265C>T | dbSNP gnomAD v2 |
19 | g.49061778G>C | CA406806877 | NTF4 | c.220C>G (p.Pro74Ala) c.250C>G (p.Pro84Ala) n.265C>G | |
19 | g.49061778G= | CA2340217442 | NTF4 | c.220C= (p.Pro74=) c.250C= (p.Pro84=) n.265C= | |
19 | g.49061778G>T | CA406806879 | NTF4 | c.220C>A (p.Pro74Thr) c.250C>A (p.Pro84Thr) n.265C>A | gnomAD v4 |
19 | g.49061779G>A | CA9565702 | NTF4 | c.219C>T (p.Ala73=) c.249C>T (p.Ala83=) n.264C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061779G>C | CA508279158 | NTF4 | c.219C>G (p.Ala73=) c.249C>G (p.Ala83=) n.264C>G | |
19 | g.49061779G= | CA2340217444 | NTF4 | c.219C= (p.Ala73=) c.249C= (p.Ala83=) n.264C= | |
19 | g.49061779G>T | CA508279159 | NTF4 | c.219C>A (p.Ala73=) c.249C>A (p.Ala83=) n.264C>A | gnomAD v4 |
19 | g.49061779_49061783delinsGGCAC | CA2340217443 | NTF4 | c.215_219delinsGTGCC (p.Gly72=) c.245_249delinsGTGCC (p.Gly82=) n.260_264delinsGTGCC | |
19 | g.49061780G>A | CA406806882 | NTF4 | c.218C>T (p.Ala73Val) c.248C>T (p.Ala83Val) n.263C>T | gnomAD v4 COSMIC |
19 | g.49061780G>C | CA406806884 | NTF4 | c.218C>G (p.Ala73Gly) c.248C>G (p.Ala83Gly) n.263C>G | |
19 | g.49061780G>T | CA406806886 | NTF4 | c.218C>A (p.Ala73Asp) c.248C>A (p.Ala83Asp) n.263C>A | gnomAD v4 COSMIC |
19 | g.49061780_49061783del | CA2340217445 | NTF4 | c.215_218del (p.Gly72AlafsTer10) c.215_218del (p.Gly72AlafsTer?) c.245_248del (p.Gly82AlafsTer10) n.260_263del | dbSNP |
19 | g.49061781C>A | CA406806887 | NTF4 | c.217G>T (p.Ala73Ser) c.247G>T (p.Ala83Ser) n.262G>T | gnomAD v4 |
19 | g.49061781C= | CA2340217446 | NTF4 | c.217G= (p.Ala73=) c.247G= (p.Ala83=) n.262G= | |
19 | g.49061781C>G | CA406806889 | NTF4 | c.217G>C (p.Ala73Pro) c.247G>C (p.Ala83Pro) n.262G>C | dbSNP |
19 | g.49061781C>T | CA9565703 | NTF4 | c.217G>A (p.Ala73Thr) c.247G>A (p.Ala83Thr) n.262G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061782A= | CA2340217447 | NTF4 | c.216T= (p.Gly72=) c.246T= (p.Gly82=) n.261T= | |
19 | g.49061782A>C | CA508279161 | NTF4 | c.216T>G (p.Gly72=) c.246T>G (p.Gly82=) n.261T>G | |
19 | g.49061782A>G | CA508279162 | NTF4 | c.216T>C (p.Gly72=) c.246T>C (p.Gly82=) n.261T>C | dbSNP |
19 | g.49061782A>T | CA508279163 | NTF4 | c.216T>A (p.Gly72=) c.246T>A (p.Gly82=) n.261T>A | |
19 | g.49061783C>A | CA406806894 | NTF4 | c.215G>T (p.Gly72Val) c.245G>T (p.Gly82Val) n.260G>T | |
19 | g.49061783C= | CA2340217448 | NTF4 | c.215G= (p.Gly72=) c.245G= (p.Gly82=) n.260G= | |
19 | g.49061783C>G | CA406806892 | NTF4 | c.215G>C (p.Gly72Ala) c.245G>C (p.Gly82Ala) n.260G>C | |
19 | g.49061783C>T | CA309446980 | NTF4 | c.215G>A (p.Gly72Asp) c.245G>A (p.Gly82Asp) n.260G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061784C>A | CA406806897 | NTF4 | c.214G>T (p.Gly72Cys) c.244G>T (p.Gly82Cys) n.259G>T | gnomAD v4 |
19 | g.49061784C= | CA2340217449 | NTF4 | c.214G= (p.Gly72=) c.244G= (p.Gly82=) n.259G= | |
19 | g.49061784C>G | CA406806898 | NTF4 | c.214G>C (p.Gly72Arg) c.244G>C (p.Gly82Arg) n.259G>C | dbSNP gnomAD v2 |
19 | g.49061784C>T | CA406806900 | NTF4 | c.214G>A (p.Gly72Ser) c.244G>A (p.Gly82Ser) n.259G>A | |
19 | g.49061785T>A | CA508279168 | NTF4 | c.213A>T (p.Ala71=) c.243A>T (p.Ala81=) n.258A>T | gnomAD v4 |
19 | g.49061785T>C | CA508279169 | NTF4 | c.213A>G (p.Ala71=) c.243A>G (p.Ala81=) n.258A>G | |
19 | g.49061785T>G | CA508279167 | NTF4 | c.213A>C (p.Ala71=) c.243A>C (p.Ala81=) n.258A>C | |
19 | g.49061786G>A | CA406806902 | NTF4 | c.212C>T (p.Ala71Val) c.242C>T (p.Ala81Val) n.257C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061786G>C | CA406806906 | NTF4 | c.212C>G (p.Ala71Gly) c.242C>G (p.Ala81Gly) n.257C>G | |
19 | g.49061786G= | CA2340217450 | NTF4 | c.212C= (p.Ala71=) c.242C= (p.Ala81=) n.257C= | |
19 | g.49061786G>T | CA406806909 | NTF4 | c.212C>A (p.Ala71Glu) c.242C>A (p.Ala81Glu) n.257C>A | gnomAD v4 |
19 | g.49061787C>A | CA406806911 | NTF4 | c.211G>T (p.Ala71Ser) c.241G>T (p.Ala81Ser) n.256G>T | |
19 | g.49061787C>G | CA406806913 | NTF4 | c.211G>C (p.Ala71Pro) c.241G>C (p.Ala81Pro) n.256G>C | |
19 | g.49061787C>T | CA406806915 | NTF4 | c.211G>A (p.Ala71Thr) c.241G>A (p.Ala81Thr) n.256G>A | |
19 | g.49061788T>A | CA508279174 | NTF4 | c.210A>T (p.Ser70=) c.240A>T (p.Ser80=) n.255A>T | |
19 | g.49061788T>C | CA508279175 | NTF4 | c.210A>G (p.Ser70=) c.240A>G (p.Ser80=) n.255A>G | dbSNP |
19 | g.49061788T>G | CA508279176 | NTF4 | c.210A>C (p.Ser70=) c.240A>C (p.Ser80=) n.255A>C | |
19 | g.49061788T= | CA2340217451 | NTF4 | c.210A= (p.Ser70=) c.240A= (p.Ser80=) n.255A= | |
19 | g.49061789G>A | CA406806917 | NTF4 | c.209C>T (p.Ser70Leu) c.239C>T (p.Ser80Leu) n.254C>T | |
19 | g.49061789G>C | CA406806919 | NTF4 | c.209C>G (p.Ser70Ter) c.239C>G (p.Ser80Ter) n.254C>G | |
19 | g.49061789G= | CA2340217452 | NTF4 | c.209C= (p.Ser70=) c.239C= (p.Ser80=) n.254C= | |
19 | g.49061789G>T | CA406806921 | NTF4 | c.209C>A (p.Ser70Ter) c.239C>A (p.Ser80Ter) n.254C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061790A>C | CA406806926 | NTF4 | c.208T>G (p.Ser70Ala) c.238T>G (p.Ser80Ala) n.253T>G | |
19 | g.49061790A>G | CA406806924 | NTF4 | c.208T>C (p.Ser70Pro) c.238T>C (p.Ser80Pro) n.253T>C | |
19 | g.49061790A>T | CA406806922 | NTF4 | c.208T>A (p.Ser70Thr) c.238T>A (p.Ser80Thr) n.253T>A | |
19 | g.49061790_49061795del | CA2838690898 | NTF4 | c.203_208del (p.Arg68_Ser70delinsPro) c.233_238del (p.Arg78_Ser80delinsPro) n.248_253del | |
19 | g.49061791C>A | CA406806928 | NTF4 | c.207G>T (p.Glu69Asp) c.237G>T (p.Glu79Asp) n.252G>T | gnomAD v4 |
19 | g.49061791C>G | CA406806930 | NTF4 | c.207G>C (p.Glu69Asp) c.237G>C (p.Glu79Asp) n.252G>C | |
19 | g.49061791C>T | CA508279180 | NTF4 | c.207G>A (p.Glu69=) c.237G>A (p.Glu79=) n.252G>A | |
19 | g.49061792T>A | CA406806932 | NTF4 | c.206A>T (p.Glu69Val) c.236A>T (p.Glu79Val) n.251A>T | |
19 | g.49061792T>C | CA406806934 | NTF4 | c.206A>G (p.Glu69Gly) c.236A>G (p.Glu79Gly) n.251A>G | |
19 | g.49061792T>G | CA406806936 | NTF4 | c.206A>C (p.Glu69Ala) c.236A>C (p.Glu79Ala) n.251A>C | |
19 | g.49061792_49061793delinsTC | CA2340217453 | NTF4 | c.205_206delinsGA (p.Glu69=) c.235_236delinsGA (p.Glu79=) n.250_251delinsGA | |
19 | g.49061793C>A | CA406806938 | NTF4 | c.205G>T (p.Glu69Ter) c.235G>T (p.Glu79Ter) n.250G>T | |
19 | g.49061793C>G | CA406806940 | NTF4 | c.205G>C (p.Glu69Gln) c.235G>C (p.Glu79Gln) n.250G>C | |
19 | g.49061793C>T | CA406806941 | NTF4 | c.205G>A (p.Glu69Lys) c.235G>A (p.Glu79Lys) n.250G>A | gnomAD v4 |
19 | g.49061795del | CA633890022 | NTF4 | c.205del (p.Glu69SerfsTer14) c.205del (p.Glu69SerfsTer?) c.235del (p.Glu79SerfsTer14) n.250del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061794C>A | CA508279183 | NTF4 | c.204G>T (p.Arg68=) c.234G>T (p.Arg78=) n.249G>T | gnomAD v4 |
19 | g.49061794C= | CA2340217454 | NTF4 | c.204G= (p.Arg68=) c.234G= (p.Arg78=) n.249G= | |
19 | g.49061794C>G | CA508279184 | NTF4 | c.204G>C (p.Arg68=) c.234G>C (p.Arg78=) n.249G>C | |
19 | g.49061794C>T | CA309446985 | NTF4 | c.204G>A (p.Arg68=) c.234G>A (p.Arg78=) n.249G>A | dbSNP gnomAD v2 |
19 | g.49061795C>A | CA406806943 | NTF4 | c.203G>T (p.Arg68Leu) c.233G>T (p.Arg78Leu) n.248G>T | gnomAD v4 |
19 | g.49061795C= | CA2340217455 | NTF4 | c.203G= (p.Arg68=) c.233G= (p.Arg78=) n.248G= | |
19 | g.49061795C>G | CA406806945 | NTF4 | c.203G>C (p.Arg68Pro) c.233G>C (p.Arg78Pro) n.248G>C | |
19 | g.49061795C>T | CA9565704 | NTF4 | c.203G>A (p.Arg68Gln) c.233G>A (p.Arg78Gln) n.248G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |